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Nature Genetics|April 10, 2007
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczemaAileen Sandilands, Ana Terron-Kwiatkowski, Peter R Hull, et al.Gastroenterology|April 15, 2014
Loss of syntaxin 3 causes variant microvillus inclusion diseaseCaroline L Wiegerinck, Andreas R Janecke, Kerstin Schneeberger, et al.Human Molecular Genetics|September 12, 2015
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrheaAndreas R Janecke, Peter Heinz-Erian, Jianyi Yin, et al.American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.Nature Genetics|September 11, 2012
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotoniaMagdalena Zimoń, Jonathan Baets, Leonardo Almeida-Souza, et al.The Journal of Clinical Investigation|May 16, 2022
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical traffickingRémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, et al.Journal of Clinical Medicine|February 2, 2021
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B MutationsDenise Aldrian, Georg F Vogel, Teresa K Frey, et al.Journal of Medical Genetics|November 24, 2021
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, et al.Journal of the American Society of Nephrology : JASN|February 17, 2021
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat SyndromeNina Mann, Slim Mzoughi, Ronen Schneider, et al.American Journal of Human Genetics|April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismDebora Tibbe, Marie Ronja Vogt, Tess Holling, et al.Pageof 13